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UBE3A

Index UBE3A

Ubiquitin-protein ligase E3A (UBE3A) also known as E6AP ubiquitin-protein ligase (E6AP) is an enzyme that in humans is encoded by the UBE3A gene. [1]

29 relations: Angelman syndrome, Base pair, Cell (biology), Chromosomal translocation, Chromosome 15, Enzyme, Gene, Genomic imprinting, Lck, Long non-coding RNA, MCM7, MECP2, Mutation, Neuroglia, Neuron, Prader–Willi syndrome, Progesterone receptor, Proteasome, Protein, Protein–protein interaction, TSC2, Tyrosine-protein kinase BLK, UBE2D1, UBE2D2, UBE2L3, Ube3a-ATS, Ubiquitin, UBQLN1, UBQLN2.

Angelman syndrome

Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system.

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Base pair

A base pair (bp) is a unit consisting of two nucleobases bound to each other by hydrogen bonds.

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Cell (biology)

The cell (from Latin cella, meaning "small room") is the basic structural, functional, and biological unit of all known living organisms.

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Chromosomal translocation

In genetics, a chromosome translocation is a chromosome abnormality caused by rearrangement of parts between nonhomologous chromosomes.

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Chromosome 15

Chromosome 15 is one of the 23 pairs of chromosomes in humans.

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Enzyme

Enzymes are macromolecular biological catalysts.

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Gene

In biology, a gene is a sequence of DNA or RNA that codes for a molecule that has a function.

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Genomic imprinting

Genomic imprinting is an epigenetic phenomenon that causes genes to be expressed in a parent-of-origin-specific manner.

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Lck

Lck (or lymphocyte-specific protein tyrosine kinase) is a 56 kDa protein that is found inside specialized cells of the immune system called lymphocytes.

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Long non-coding RNA

Long non-coding RNAs (long ncRNAs, lncRNA) are defined as transcripts longer than 200 nucleotides that are not translated into protein.

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MCM7

DNA replication licensing factor MCM7 is a protein that in humans is encoded by the MCM7 gene.

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MECP2

MECP2 (methyl CpG binding protein 2 (Rett syndrome)) is a gene that encodes the protein MECP2.

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Mutation

In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements.

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Neuroglia

Neuroglia, also called glial cells or simply glia, are non-neuronal cells in the central nervous system (brain and spinal cord) and the peripheral nervous system.

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Neuron

A neuron, also known as a neurone (British spelling) and nerve cell, is an electrically excitable cell that receives, processes, and transmits information through electrical and chemical signals.

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Prader–Willi syndrome

Prader–Willi syndrome (PWS) is a genetic disorder due to loss of function of specific genes.

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Progesterone receptor

The progesterone receptor (PR), also known as NR3C3 or nuclear receptor subfamily 3, group C, member 3, is a protein found inside cells.

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Proteasome

Proteasomes are protein complexes which degrade unneeded or damaged proteins by proteolysis, a chemical reaction that breaks peptide bonds.

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Protein

Proteins are large biomolecules, or macromolecules, consisting of one or more long chains of amino acid residues.

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Protein–protein interaction

Protein–protein interactions (PPIs) are the physical contacts of high specificity established between two or more protein molecules as a result of biochemical events steered by electrostatic forces including the hydrophobic effect.

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TSC2

Tuberous Sclerosis Complex 2 (TSC2), also known as Tuberin, is a protein that in humans is encoded by the TSC2 gene.

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Tyrosine-protein kinase BLK

Tyrosine-protein kinase BLK also known as B lymphocyte kinase is an enzyme that in humans is encoded by the BLK gene.

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UBE2D1

Ubiquitin-conjugating enzyme E2 D1 is a protein that in humans is encoded by the UBE2D1 gene.

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UBE2D2

Ubiquitin-conjugating enzyme E2 D2 is a protein that in humans is encoded by the UBE2D2 gene.

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UBE2L3

Ubiquitin-conjugating enzyme E2 L3 (UBE2L3), also called UBCH7, is a protein that in humans is encoded by the UBE2L3 gene.

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Ube3a-ATS

UBE3A-ATS/Ube3a-ATS (human/mouse), otherwise known as ubiquitin ligase E3A-ATS, is the name for the antisense DNA strand that is transcribed as part of a larger transcript called LNCAT (large non-coding antisense transcript) at the Ube3a locus.

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Ubiquitin

Ubiquitin is a small (8.5 kDa) regulatory protein found in most tissues of eukaryotic organisms, i.e. it occurs ''ubiquitously''.

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UBQLN1

Ubiquilin-1 is a protein that in humans is encoded by the UBQLN1 gene.

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UBQLN2

Ubiquilin-2 is a protein that in humans is encoded by the UBQLN2 gene.

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Redirects here:

E6-AP, E6AP, UBE3A (gene), Ubiquitin protein ligase E3A.

References

[1] https://en.wikipedia.org/wiki/UBE3A

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